The analysis of thalassemia gene mutation types in Chongqing / 国际检验医学杂志

ABSTRACT

Objective To investigate the type of gene mutation and its distribution in patients with thalassemia in Chongqing ,in order to guide prenatal and postnatal care .Methods PCR and membrane hybridization technology for α-thalassemia andβ-thalasse-mia gene detection .Results From September 2012 to September 2013 ,349 thalassemia patients were detected ,including 125 α-thalassemia patients and 211β-thalassemia patients .Based on genotypes ,gene deletions were the most common type of gene muta-tion of α-thalassemia patients .Southeast Asia deletion - -SEA/αα(accounted for 73 .60 % ) and the right deletion -3 .7/αα(ac-counted for 19 .20% ) were the major types of gene deletion .Forβ-thalassemia patinets ,the hot spots of mutation were CD17(A→T) ,CD41-42(-TCTT) and IVS-Ⅱ-654(C→ T) ,which accounted for 29 .38% ,28 .91% and 27 .49% respectively .α-thalassemia combined with β-thalassemia mutations were detected in 13 patients .Conclusion Studing the gene mutation types of thalassemia and its distribution provides valuable information for genetic counseling and clinical therapy in Chongqing .